Results 121 to 130 of about 3,537,976 (165)

<i>MYBPC1</i>-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case. [PDF]

Front Genet
Velardo D, Alberti C, Gagliardi D, Del Bo R, Ciscato P, Napoli L, Zanotti S, Ripolone M, Croce MG, Cosentino G, Tumminello G, Locatelli M, Comi GP, Corti S, Ravaglia S, Ronchi D.   +15 more
europepmc   +1 more source

Case Report: Pediatric immune-mediated necrotizing myopathies mimicking inherited muscle disorders: clinical, paraclinical, and genetic insights from two cases. [PDF]

Front Pediatr
Severa G, Cortes-Rojas MC, Gomez-Garcia de la Banda M, Belmondo T, Benezit A, Leturcq F, Verebi C, Periou B, Gallardo E, Cassandrini D, Gendre T, Hue S, Gitiaux C, Toubal N, Nouioua S, Boucher N, Bader-Meunier B, Authier FJ, Carlier RY, Quijano-Roy S, Malfatti E.   +20 more
europepmc   +1 more source

Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period. [PDF]

Neurol Genet
Cicala G, Mccauley J, Phadke R, Mueller J, Robb SA, Manzur AY, Munot P, Baranello G, Scoto M, Tedesco FS, Mein RA, Walsh C, Muntoni F, Sarkozy A.   +13 more
europepmc   +1 more source

Reducing Body Myopathy in Female Patients With <i>FHL1</i> Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case Series. [PDF]

Neurol Genet
Severa G, Barnerias C, Gitiaux C, Laforet P, Desguerre I, Souvannanorath S, Periou B, Bastu S, Prigent H, Romero NB, Bonaldo P, Merlini L, Cenacchi G, Pegoraro E, Bello L, Rendu J, Villanova M, Carlier RY, Malfatti E, Authier FJ.   +19 more
europepmc   +1 more source

A case report of X-linked centronuclear myopathy in a neonate: clinical presentation, therapeutic process, and genetic insights. [PDF]

Front Pediatr
Liao H, Jiang M, Zhong X, Luo X, Qiu H, Pan H, Gan J, Zhong S.   +7 more
europepmc   +1 more source

Statins, skeletal muscle, and ryanodine receptor activation: resolving a 30-year mystery behind statin myotoxicity. [PDF]

Cardiovasc Diabetol Endocrinol Rep
Santulli G.
europepmc   +1 more source

Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions. [PDF]

World J Methodol
Al-Beltagi M, Saeed N, Bediwy A, Elbeltagi R.   +3 more
europepmc   +1 more source

Molecular Bases of Myopathies and Their Impact on Clinical Practice: Advances and Future Perspectives. [PDF]

Int J Mol Sci
Campuzano-Donoso M, Reytor-González C, Toral-Noristz M, González Y, Simancas-Racines D.   +4 more
europepmc   +1 more source

OXPHOS complex deficiency in congenital myopathy: A systematic review. [PDF]

Eur J Clin Invest
du Preez MJ, Schoonen M, Williams ME, Bisschoff M, van der Westhuizen FH.   +4 more
europepmc   +1 more source

Nemaline Myopathy Associated with a NEB Splice-Site Variant: A Rare Case. [PDF]

Ann Indian Acad Neurol
Yeşildaş PY, Özenç B.
europepmc   +1 more source